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PRNP c.127_128delinsGC ;(p.S43A)
Variant ID: 20-4679993-AG-GC
NM_000311.3(
PRNP
):c.127_128delinsGC;(p.S43A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cyclin-dependent kinase 5 phosphorylation of familial prion protein mutants exacerbates conversion into amyloid structure.
The Journal Of Biological Chemistry
Rouget, Raphaël R; Sharma, Gyanesh G; LeBlanc, Andréa C AC
Publication Date: 2015-02-27
Variant appearance in text: PRNP: S43A
PubMed Link:
25572400
Variant Present in the following documents:
Main text
View BVdb publication page